Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant

Jennifer L. Oliveira; Kenneth Swanson; Patricia Wendt; Thomas D. Caughey; James D. Hoyer

doi:10.3109/03630269.2010.526921

Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant

Jennifer L. Oliveira, Kenneth Swanson, Patricia Wendt, Thomas D. Caughey, James D. Hoyer

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O₂) affinity and is associated with mild polycythemia.

Original language	English (US)
Pages (from-to)	565-571
Number of pages	7
Journal	Hemoglobin
Volume	34
Issue number	6
DOIs	https://doi.org/10.3109/03630269.2010.526921
State	Published - Dec 2010

Keywords

Cambridge
Congenital
Erythrocytosis
Hemoglobin (Hb) variant
Hemoglobinopathy
High oxygen (O ) affinity
Left-shifted dissociation curve
Polycythemia
p50

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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title = "Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant",

abstract = "A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O2) affinity and is associated with mild polycythemia.",

keywords = "Cambridge, Congenital, Erythrocytosis, Hemoglobin (Hb) variant, Hemoglobinopathy, High oxygen (O ) affinity, Left-shifted dissociation curve, Polycythemia, p50",

author = "Oliveira, {Jennifer L.} and Kenneth Swanson and Patricia Wendt and Caughey, {Thomas D.} and Hoyer, {James D.}",

year = "2010",

month = dec,

doi = "10.3109/03630269.2010.526921",

language = "English (US)",

volume = "34",

pages = "565--571",

journal = "Hemoglobin",

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T2 - A new high oxygen affinity variant

AU - Oliveira, Jennifer L.

AU - Swanson, Kenneth

AU - Wendt, Patricia

AU - Caughey, Thomas D.

AU - Hoyer, James D.

PY - 2010/12

Y1 - 2010/12

N2 - A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O2) affinity and is associated with mild polycythemia.

AB - A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1) β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O2) affinity and is associated with mild polycythemia.

KW - Cambridge

KW - Congenital

KW - Erythrocytosis

KW - Hemoglobin (Hb) variant

KW - Hemoglobinopathy

KW - High oxygen (O ) affinity

KW - Left-shifted dissociation curve

KW - Polycythemia

KW - p50

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Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A new high oxygen affinity variant

Abstract

Keywords

ASJC Scopus subject areas

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